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PubMed1999

Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome.

We examined the phenotypic variation and clinical genetics in nine families with generalized epilepsy with febrile seizures plus (GEFS+). This genetic epilepsy syndrome with heterogeneous phenotypes was hitherto described in only one family. We obtained genealogical information on 799 individuals and conducted detailed evaluation of 272 individuals. Ninety-one individuals had a history of seizures and 63 had epilepsy consistent with the GEFS+ syndrome. Epilepsy phenotypes were febrile seizures (FS) in 31, febrile seizures plus (FS+) in 15, FS+ with other seizure types (atonic, myoclonic, absence, or complex partial) in 8, and myoclonic-astatic epilepsy in 9 individuals. Inheritance was autosomal dominant with approximately 60% penetrance. This study confirms and expands the spectrum of GEFS+ and provides new insights into the phenotypic relationships and genetics of FS and the generalized epilepsies of childhood. Moreover, the ability to identify large families with this newly recognized common, childhood-onset, generalized genetic epilepsy syndrome suggests that it should be a prime target for attempts to identify genes relevant to FS and generalized epilepsy.

Adult↗
PubMed2006

Pediatric experience with sudden unexplained death in epilepsy at a tertiary epilepsy center.

Sudden unexplained death in epilepsy is rare in children, and few studies report risk factors. We reviewed our experience with 17 cases of sudden unexplained death in epilepsy to determine risk factors in children. The charts of all patients with onset of epilepsy at less than age 18 years who suffered sudden unexplained death in epilepsy between August 1992 and April 2004 at our epilepsy center were retrospectively reviewed. Deaths were classified as possible, probable, or definite sudden unexplained death in epilepsy. There were seven cases of definite, nine cases of probable, and one case of possible sudden unexplained death in epilepsy. Generalized tonic-clonic seizures and prone position during sleep were found to be major risk factors. Sudden unexplained death in epilepsy in children and adolescents is associated with convulsive seizures, and aggressive treatment of nocturnal generalized tonic-clonic seizures might help lower the occurrence.

Adolescent↗
PubMed1999

Observations on the misdiagnosis of generalized epilepsy as partial epilepsy: causes and consequences.

More therapeutic options (surgical and pharmacologic) are available for partial than for generalized epilepsies. This report describes and analyzes a possible bias to diagnose focal epilepsies. Data were prospectively collected on patients who underwent noninvasive prolonged EEG-video monitoring over a 2-year period at an epilepsy program. Cases where the diagnosis of 'partial seizures' (after monitoring) was questionable were identified and the data reviewed. Sixteen cases were identified. (a) Six had an idiopathic generalized epilepsy. All had generalized tonic-clonic (GTC) seizures, two had myoclonic seizures, and three had typical absences. All patients had generalized spikes and spike-wave complexes. All had normal IQs and normal brain imaging. One patient underwent invasive EEG. (b) Ten patients had a symptomatic or cryptogenic generalized epilepsy. IQs ranged from 49 to 74 (mean: 63). All patients had diffuse EEG slowing, and generalized ictal EEG patterns. Interictal EEG showed generalized spike-wave complexes in nine, and multifocal spikes in five. Seizures included GTC in all, generalized tonic in four, and atypical absences in two. Two of the 10 patients underwent invasive EEG. The misdiagnosis of generalized epilepsy as partial epilepsy occurs for both idiopathic and cryptogenic or symptomatic generalized epilepsies, more often in the latter case. Risk factors may include: asymmetry in EEG or seizure semeiology, the eagerness to enroll in drug studies or surgical programs, and the lack of team thinking involving several epileptologists. This problem is almost certainly under-reported and may occasionally result in unwarranted invasive procedures.

Adolescent↗
PubMed1996

Cryptogenic partial epilepsies with anti-GM1 antibodies: a new form of immune-mediated epilepsy?

PURPOSE: We wished to study immune system dysfunction which has been proposed as a potential cause of epilepsy. Epileptogenic action of antibodies directed against GM1 gangliosides was demonstrated in rats, but the potential role of anti-GM1 antibodies in human epilepsy has not yet been studied. METHODS: We investigated the presence of IgG or IgM anti-GM1 antibodies in the sera of 64 patients with various types of epileptic syndromes: idiopathic generalized epilepsy (IGE) (n = 6), symptomatic or cryptogenic generalized epilepsy (SCGE) (n = 7), symptomatic partial epilepsy (SPE) (n = 26), and cryptogenic partial epilepsy (CPE) (n = 25). RESULTS: Two patients had elevated titers of IgM anti-GM1 antibodies, one patient had elevated titers of both IgM and IgG anti-GM1 antibodies, and 1 patient had elevated titers of IgG anti-GM1 antibodies. All 4 patients had complex partial seizures (CPS) secondarily generalized, drug resistance, psychiatric disorders, and normal brain imaging. Anti-GM1 antibodies were never associated with IGE, SCGE, or SPE. We compared the reactivity of sera from these patients with the sera from 5 patients with motor neuropathies with conduction block (MNCB) against different gangliosides and concluded that epilepsy sera did not react with the Gal(beta 1-3)GalNAc epitope. Two anti-GM1-positive patients were treated successfully with high-dose intravenous immunoglobulins (IgIV). CONCLUSIONS: Our findings suggest that detection of anti-GM1 antibodies could allow identification of a subgroup of patients with partial epilepsy associated with an autoimmune response. If anti-GM1 antibodies prove pathogenic, they could be an important prognostic factor for drug resistance and worsening of seizures.

Adult↗
PubMed1991

Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients.

Juvenile myoclonic epilepsy (JME) is a distinct subform of idiopathic generalized epilepsy of adolescence. Linkage studies with Bf and serologic HLA markers in families of JME patients have shown a tight linkage on chromosome 6. We present a linkage analysis with HLA-DQ restriction fragment length polymorphisms on more extended families, paying particular attention to the epilepsy type of the affected family members. We studied 21 families of JME patients with a total of 143 family members and obtained a highest logarithm of the odds (lod) score of 3.9 (theta m = 0.01, theta f = 0.01) assuming a dominant mode of inheritance and 70% penetrance when family members with JME, absence epilepsy, or epilepsy with generalized tonic-clonic seizures (GTCS) were considered as affected. When we also classified clinically normal family members with generalized spike-wave discharges in the EEG as "affected," the maximum lod score was 4.1 (theta m = 0.01, theta f = 0.3) under a dominant mode of inheritance and 90% penetrance. These findings support the conclusion that a gene locus for a group of idiopathic generalized epilepsies (JME, epilepsy with absences, and epilepsy with GTCS) maps to chromosome 6p.

Chromosomes, Human, Pair 6↗
PubMed1998

Epilepsies in twins: genetics of the major epilepsy syndromes.

We studied twins to examine the genetics of epilepsy syndromes. We ascertained 358 twin pairs in whom one or both reported seizures. After evaluation, 253 of 358 (71%) had seizure disorders and 105 pairs were false positives. Among the monozygous (MZ) pairs, more were concordant for seizures (48 of 108; casewise concordance = 0.62 +/- 0.05) than among the dizygous (DZ) pairs (14 of 145; casewise concordance = 0.18 +/- 0.04). In 94% of concordant MZ pairs, and 71% of concordant DZ pairs, both twins had the same major epilepsy syndrome. When analyzed according to major epilepsy syndrome, the casewise concordances for generalized epilepsies (MZ = 0.82; DZ = 0.26), both idiopathic (MZ = 0.76; DZ = 0.33) and symptomatic (MZ = 0.83; DZ = 0), were greater than those for partial epilepsies (MZ = 0.36; DZ = 0.05), with intermediate values seen for febrile seizures (MZ = 0.58; DZ = 0.14) and unclassified epilepsies (MZ = 0.53; DZ = 0.18). We conclude that genetic factors are particularly important in the generalized epilepsies but also play a role in the partial epilepsies. The high frequency of concordant MZ pairs with the same major syndrome strongly suggests there are syndrome-specific genetic determinants rather than a broad genetic predisposition to seizures.

Analysis of Variance↗